Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

American Journal of Medical Genetics

Volumn 90, Issue 1, 2000, Pages 38-44

  Masmoudi, Saber ^a   Charfedine, Ilhem ^b   Hmani, Mounira ^a   Grati, M'hamed ^c   Ghorbel, Abdel Monem ^b   Elgaied Boulila, Amel ^a   Drira, Mohamed ^b   Hardelin, Jean Pierre ^c   Ayadi, Hammadi ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b HABIB BOURGUIBA HOSPITAL   (Tunisia)

^c INSTITUT PASTEUR   (France)

Author keywords

Linkage; Mutation; PDS; Pendred syndrome; Phenotypic heterogeneity

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GOITER; HUMAN; MALE; MISSENSE MUTATION; PEDIGREE ANALYSIS; PENDRED SYNDROME; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; LEUCINE; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; TRYPTOPHAN;

EID: 0033987133     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.0.CO;2-R     Document Type: Article

References (21)

1. Basani RB, Brown DL, Vilaire G, Bennett JS, Poncz M. 1997. A Leu 117→Trp mutation within the RGD-peptide cross-linking region of beta3 export to the platelet surface. Blood 90:3082-3088.
2. Coyle B, Coffey R, Armour JA, Gausden E, Hochberg Z, Grossman A, Britton K, Pembrey M, Reardon W, Trembath R. 1996. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Nat Genet 12:421-423.
3. Cremers CWRJ, Bolder C, Admiraal RJC, Everett LA, Joosten FBM, Van Hauwe P, Green ED, Otten BJ. 1998. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg 124:501-505.
4. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154.
5. Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. 1997. Pendred syndrome is caused by mutations in a putative sulfate transporter gene (PDS). Nat Genet 17:411-422.
6. Fraser GR. 1965. Association of congenital deafness with goitre (Pendred's syndrome): a study of 207 families. Ann Hum Genet 28:201-249.
7. Hooker DJ, Tachedjian G, Solomon AE, Gurusinghe AD, Land S, Birch C, Anderson JL, Roy BM, Arnold E, Deacon NJ. 1996. An in vivo mutation from leucine to tryptophan at position 210 in human immunodeficiency virus type 1 reverse transcriptase contributes to high-level resistance to 3′-azido-3≰-deoxythymidine. J Virol 70:8010-8018.
8. Johnsen T, Larsen C, Friis J, Hougaard-Jensen F. 1987. Pendred's syndrome: acoustic, vestibular and radiological findings in 17 unrelated patients. J Laryngol Otol 101:1187-1192.
9. Johnsen T, Sorensen MS, Feldet-Rasmussen U, Friis J. 1989. The variable intrafamilial expressivity in Pendred's syndrome. Clin Otolaryngol 14:395-399.
10. Lathrop GM, Lalouel JM. 1984. Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
11. Li XC, Everett LA, Lalwani AK, Desmukh D, Freidman T, Green ED, Wilcox ER. 1998. A mutation in PDS causes non-syndromic recessive deafness. Nat Genet 18:215-217.
12. Morgans ME, Trotter WR. 1958. Association of congenital deafness with goitre; the nature of the thyroid defect. Lancet 1:607-609.
13. O'Mahoney CF, Luxon LM, Chew SL, Wass JL. 1996. When the triad of congenital hearing loss, goitre and perchlorate positive is not Pendred syndrome. J Audiol Med 5:157-165.
14. Pendred V. 1896. Deaf mutism and goitre. Lancet 2:532.
15. Phelps PD, Coffey RA, Trembath RC, Luxon LM, Grossman AB, Britton KE, Kendall-Taylor P, Graham JM, Cadge BC, Stephens SGD, Pembrey ME, Reardon W. 1998. Radiological malformations of the ear in Pendred syndrome. Clin Radiol 53:268-273.
16. Reardon W, Coffey R, Pembrey ME, Rajput K, Phelps PD, Luxon LM, Britton KE, Grossman A, Kendall-Taylor P, Trembath RC. 1997. Pitfalls in practice-diagnosis and misdiagnosis in Pendred syndrome. J Audiol Med 6:1-9.
17. Sanchez R, Mebarki F, Rheaume E, Laflamme N, Forest MG, Bey-Omard F, David M, Morel Y, Labrie F, Simard J. 1994. Functional characterization of the novel L108W and P186L mutations detected in the type II beta-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia. Hum Mol Genet 3:1639-1645.
18. Scott DA, Wang R, Kreman TM, Sheffield VC, Karnishki LP. 1999. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nat Genet 21:440-443.
19. Sheffield VC, Kraeim Z, Beck JC, Nishimura D, Stone EM, Salameh M, Sadeh O, Glaser M. 1996. Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nat Genet 12:424-426.
20. Usami S, Abe S, Weston MD, Shinkawa H, Van Camp G, Kimberling WJ. 1999. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum Genet 104:188-192.
21. Van Hauwe P, Everett LA, Coucke P, Scott DA, Kraft ML, Ris-Stalpers C, Bolder C, Otten B, Vijlder JJM, Dietrich NL, Ramesh A, Srisailapathy SCR, Parving A, Cremers CWRJ, Willems PJ, Smith RJH, Green ED, Van Camp G. 1998. Two frequent missense mutations in Pendred syndrome. Hum Mol Genet 7: 1099-1104.